ACSM5

Chr 16

acyl-CoA synthetase medium chain family member 5

NCBI Gene: 54988 ENSG00000183549 UniProt: Q6NUN0 OMIM: 614361

ACSM5 encodes an enzyme that catalyzes the activation of fatty acids by CoA to produce acyl-CoA, the first step in fatty acid metabolism within mitochondria. Mutations cause autosomal recessive spastic paraplegia-56, which involves progressive spasticity and weakness primarily affecting the lower limbs. This gene shows low constraint against loss-of-function variants, consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable fatty acid ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.26

LOEUF

Mechanism· predicted